{
    "disease_id": "DOID:0080420",
    "recommended_name": {
        "id": "DOID:0080420",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080420",
        "name": "developmental and epileptic encephalopathy 62",
        "description": "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080420",
            "name": "DEE62",
            "description": ""
        },
        {
            "id": "DOID:0080420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080420",
            "name": "early infantile epileptic encephalopathy 62",
            "description": ""
        },
        {
            "id": "MONDO:0033371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033371",
            "name": "developmental and epileptic encephalopathy, 62",
            "description": ""
        },
        {
            "id": "MONDO:0033371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033371",
            "name": "DEE62",
            "description": ""
        },
        {
            "id": "MONDO:0033371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033371",
            "name": "EIEE62",
            "description": ""
        },
        {
            "id": "MONDO:0033371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033371",
            "name": "developmental and epileptic encephalopathy 62",
            "description": ""
        },
        {
            "id": "MONDO:0033371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033371",
            "name": "epileptic encephalopathy, early infantile, 62",
            "description": ""
        },
        {
            "id": "MIM:617938",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617938",
            "name": "Developmental and epileptic encephalopathy 62",
            "description": "Developmental and epileptic encephalopathy 62"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080420"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080420",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080420",
            "categories": []
        },
        {
            "id": "MONDO:0033371",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033371",
            "categories": []
        },
        {
            "id": "MIM:617938",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617938",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q653-1",
            "uniprot_ac": "A0A8M9Q653",
            "uniprot_id": "A0A8M9Q653_DANRE",
            "refseq_ac": "XP_021332559",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein",
                    "type": "recommended"
                },
                {
                    "name": "sodium channel, voltage-gated, type I like, alpha b isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "scn1lab",
                    "type": "recommended"
                },
                {
                    "name": "scn1lab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q653-1",
            "evidence": [
                {
                    "id": "0080420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2ASI5-1",
            "uniprot_ac": "A2ASI5",
            "uniprot_id": "SCN3A_MOUSE",
            "refseq_ac": "NP_061202",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 3 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein brain III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subtype III",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.3",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein brain III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 3 subunit alpha isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 3 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type III, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subtype III",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn3a",
                    "type": "recommended"
                },
                {
                    "name": "Gm1000",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.3",
                    "type": "synonym"
                },
                {
                    "name": "Scn3a",
                    "type": "synonym"
                }
            ],
            "record_id": "A2ASI5-1",
            "evidence": [
                {
                    "id": "0080420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NY46-1",
            "uniprot_ac": "Q9NY46",
            "uniprot_id": "SCN3A_HUMAN",
            "refseq_ac": "NP_001075145",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 3 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein brain III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subtype III",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.3",
                    "type": "synonym"
                },
                {
                    "name": "brain III voltage-gated sodium channel",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein brain III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 3 subunit alpha isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type 3 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel protein type III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage gated, type III alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium channel, voltage-gated, type III, alpha polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subtype III",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated sodium channel subunit alpha Nav1.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SCN3A",
                    "type": "recommended"
                },
                {
                    "name": "DEE62",
                    "type": "synonym"
                },
                {
                    "name": "EIEE62",
                    "type": "synonym"
                },
                {
                    "name": "FFEVF4",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1356",
                    "type": "synonym"
                },
                {
                    "name": "NAC3",
                    "type": "synonym"
                },
                {
                    "name": "Nav1.3",
                    "type": "synonym"
                },
                {
                    "name": "SCN3A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NY46-1",
            "evidence": [
                {
                    "id": "617938",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617938"
                },
                {
                    "id": "0080420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50077-1",
            "uniprot_ac": "P50077",
            "uniprot_id": "CCH1_YEAST",
            "refseq_ac": "NP_011733",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium-channel protein CCH1",
                    "type": "recommended"
                },
                {
                    "name": "calcium channel protein CCH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CCH1",
                    "type": "recommended"
                },
                {
                    "name": "CCH1",
                    "type": "synonym"
                },
                {
                    "name": "G8501",
                    "type": "synonym"
                }
            ],
            "record_id": "P50077-1",
            "evidence": [
                {
                    "id": "0080420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08104-1",
            "uniprot_ac": "P08104",
            "uniprot_id": "SCN3A_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein type 3 subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Sodium channel protein brain III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel protein type III subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subtype III",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated sodium channel subunit alpha Nav1.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Scn3a",
                    "type": "recommended"
                }
            ],
            "record_id": "P08104-1",
            "evidence": [
                {
                    "id": "0080420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35500-1",
            "uniprot_ac": "P35500",
            "uniprot_id": "SCNA_DROME",
            "refseq_ac": "NP_001036280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium channel protein para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "Out cold",
                    "type": "synonym"
                },
                {
                    "name": "Out-cold",
                    "type": "synonym"
                },
                {
                    "name": "Protein paralytic",
                    "type": "synonym"
                },
                {
                    "name": "Sodium channel 1",
                    "type": "synonym"
                },
                {
                    "name": "bang senseless",
                    "type": "synonym"
                },
                {
                    "name": "bang sensitive",
                    "type": "synonym"
                },
                {
                    "name": "bang-senseless",
                    "type": "synonym"
                },
                {
                    "name": "bangsenseless",
                    "type": "synonym"
                },
                {
                    "name": "para-PB",
                    "type": "synonym"
                },
                {
                    "name": "paralytic, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "paralytic",
                    "type": "synonym"
                },
                {
                    "name": "paralyzed",
                    "type": "synonym"
                },
                {
                    "name": "shudderer",
                    "type": "synonym"
                },
                {
                    "name": "smell-blind",
                    "type": "synonym"
                },
                {
                    "name": "smellblind",
                    "type": "synonym"
                },
                {
                    "name": "voltage gated sodium ion channel",
                    "type": "synonym"
                },
                {
                    "name": "voltage-sensitive sodium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "para",
                    "type": "recommended"
                },
                {
                    "name": "CG9907",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[V]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]1",
                    "type": "synonym"
                },
                {
                    "name": "DmNa[[v]]",
                    "type": "synonym"
                },
                {
                    "name": "DmNav1",
                    "type": "synonym"
                },
                {
                    "name": "DmNav",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9907",
                    "type": "synonym"
                },
                {
                    "name": "Nav1",
                    "type": "synonym"
                },
                {
                    "name": "Ocd",
                    "type": "synonym"
                },
                {
                    "name": "Para",
                    "type": "synonym"
                },
                {
                    "name": "Scn1alpha",
                    "type": "synonym"
                },
                {
                    "name": "Shudderer",
                    "type": "synonym"
                },
                {
                    "name": "Shu",
                    "type": "synonym"
                },
                {
                    "name": "VSSC",
                    "type": "synonym"
                },
                {
                    "name": "bas",
                    "type": "synonym"
                },
                {
                    "name": "bss",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Da",
                    "type": "synonym"
                },
                {
                    "name": "l(1)ESHS48",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.S9469",
                    "type": "synonym"
                },
                {
                    "name": "olfD",
                    "type": "synonym"
                },
                {
                    "name": "para13-5",
                    "type": "synonym"
                },
                {
                    "name": "para",
                    "type": "synonym"
                },
                {
                    "name": "par",
                    "type": "synonym"
                },
                {
                    "name": "sbl-1",
                    "type": "synonym"
                },
                {
                    "name": "sbl",
                    "type": "synonym"
                }
            ],
            "record_id": "P35500-1",
            "evidence": [
                {
                    "id": "0080420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080420"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080420"
}